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Coordinates: 51°33′21″N 0°15′04″E / 51.555743°N 0.251239°E / 51.555743; 0.251239
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Upminster

Church of St Laurence
Upminster is located in Greater London
Upminster
Upminster
Location within Greater London
Population25,361 (Cranham and Upminster wards 2011)[1]
OS grid referenceTQ560865
• Charing Cross16.5 mi (26.6 km) WSW
London borough
Ceremonial countyGreater London
Region
CountryEngland
Sovereign stateUnited Kingdom
Post townUPMINSTER
Postcode districtRM14
Dialling code01708
PoliceMetropolitan
FireLondon
AmbulanceLondon
UK Parliament
London Assembly
List of places
UK
England
London
51°33′21″N 0°15′04″E / 51.555743°N 0.251239°E / 51.555743; 0.251239

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Cerebellum[edit]

The cerebellum is a part of the brain that fine-tunes signals mostly received from the cerebrum. It contains numerous inhibitory neurons arranged in a one-way filtering pattern, and these help to pin down and output precise signals. These neurons are also plastic and are thus able to retain information and learn from a trial-and-error process.[2][3] The cerebellar hemispheres correlate with the same side of the body, as opposed to the cerebral hemispheres.[2]

The cerebellum is crucial for making balance-correcting movements aim correctly, without overshooting, therefore a dysfunctional cerebellum usually leads to difficulty with walking and a characteristic compensatory gait (truncal ataxia) with a wide stance and lurching, unequal steps.[4] It can also cause the eyes to overshoot their target, especially when the vermis is involved.[2][5] Most of the cerebellum's outputs are to the motor system,[2] but the cerebellum mirrors many regions of the cerebral cortex, so cerebellar dysfunction can have other effects depending on the area affected.[3] Damage to the vermis in particular causes a more global interruption of cerebellar function and typically results in a lack of inhibitory regulation over emotion, manifesting as uncontrolled giggling or crying at inappropriate times.[6]

Allele[edit]

is any of two or more known variations at a specific place within a gene or chromosome.[7] The term refers to both the nature of the specific difference and the location of that difference. For example, if there is a guanine at position 76 in a gene, and this gets changed to a thymine, both of these are alleles of that gene. It often refers to a variant in the smallest possible genetic unit (the base pair), called a single-nucleotide polymorphism (SNP),[8] however it can also refer to variations for much larger regions that are several hundred or thousand base-pairs long (such as tandem repeats).[9][10]

Genetic disorder[edit]

Mechanisms[edit]

Genetic disorders can affect any bodily systems and can result from various mechanisms. Some disorders (usually dominant) are caused by deficiencies in genes that regulate cell division at certain points in development (such as neurofibromatosis or achondroplasia), while some others (usually recessive) are caused by deficiencies in enzymes that break down molecules, leading to a progressive build-up of the molecule (such as phenylketonuria or mucopolysaccharidoses). Other mechanisms also exist, such as structurally abnormal proteins that progressively clump together (proteopathies such as Huntington's disease) or overexpression of duplicated genes in chromosomal abnormalities.

Risk factors[edit]

Most autosomal dominant genetic disorders and chromosomal abnormalities that happen for the first time in a family occur randomly and are unlikely to re-occur in another child.[11][12] For some chromosomal abnormalities (especially abnormal numbers of whole chromosomes), the risk increases with maternal age,[13] while for some gene mutations a smaller increase in risk exists with paternal age.[14] Occasionally however, the mutation may be present in some sperm- or egg-producing cells (germline mosaicism), leading to a variable risk of recurrence.[15] For autosomal recessive disorders, there is a higher risk among those of similar ethnicity, especially those of relatively close relation.[16]

Intestinal atresia[edit]

Duodenal atresia is usually caused by a failure of the duodenum to recanalise in embryonic development, however other forms of of atresia such as jejunal are caused by an inability of the mesenteric arteries to supply blood to a part of the intestines, leading to ischemia and growth arrest or obliteration of that part of the bowel.[17][18]

  1. ^ Census Information Scheme (2012). "2011 Census Ward Population figures for London". Greater London Authority. Retrieved 17 October 2023.
  2. ^ a b c d James Knierim. "Cerebellum (Section 3, Chapter 5) Neuroscience Online: An Electronic Textbook for the Neurosciences | Department of Neurobiology and Anatomy - The University of Texas Medical School at Houston". Neuroscience Online. Retrieved 1 January 2020.{{cite web}}: CS1 maint: url-status (link)
  3. ^ a b Tedesco, Anna M.; Chiricozzi, Francesca R.; Clausi, Silvia; Lupo, Michela; Molinari, Marco; Leggio, Maria G. (December 2011). "The cerebellar cognitive profile". Brain: A Journal of Neurology. 134 (Pt 12): 3672–3686. doi:10.1093/brain/awr266. ISSN 1460-2156. PMID 22036960.
  4. ^ Buckley, Ellen; Mazzà, Claudia; McNeill, Alisdair (2018-02-01). "A systematic review of the gait characteristics associated with Cerebellar Ataxia". Gait & Posture. 60: 154–163. doi:10.1016/j.gaitpost.2017.11.024. ISSN 0966-6362.
  5. ^ Manto, Mario; Bower, James M.; Conforto, Adriana Bastos; Delgado-García, José M.; da Guarda, Suzete Nascimento Farias; Gerwig, Marcus; Habas, Christophe; Hagura, Nobuhiro; Ivry, Richard B.; Mariën, Peter; Molinari, Marco (June 2012). "Consensus Paper: Roles of the Cerebellum in Motor Control—The Diversity of Ideas on Cerebellar Involvement in Movement". Cerebellum (London, England). 11 (2): 457–487. doi:10.1007/s12311-011-0331-9. ISSN 1473-4222. PMC 4347949. PMID 22161499.
  6. ^ Clausi, Silvia; Iacobacci, Claudia; Lupo, Michela; Olivito, Giusy; Molinari, Marco; Leggio, Maria (May 2017). "The Role of the Cerebellum in Unconscious and Conscious Processing of Emotions: A Review". Applied Sciences. 7 (5): 521. doi:10.3390/app7050521.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ Wood, E.J. (1995). "The encyclopedia of molecular biology". Biochemical Education. 23 (2): 1165. doi:10.1016/0307-4412(95)90659-2.
  8. ^ Smigielski, Elizabeth M.; Sirotkin, Karl; Ward, Minghong; Sherry, Stephen T. (2000-01-01). "dbSNP: a database of single nucleotide polymorphisms". Nucleic Acids Research. 28 (1): 352–355. doi:10.1093/nar/28.1.352. ISSN 0305-1048. PMC 102496. PMID 10592272.
  9. ^ Elston, Robert; Satagopan, Jaya; Sun, Shuying (2012). "Genetic Terminology". Statistical Human Genetics. Methods in Molecular Biology (Clifton, N.J.). Vol. 850. pp. 1–9. doi:10.1007/978-1-61779-555-8_1. ISBN 978-1-61779-554-1. ISSN 1064-3745. PMC 4450815. PMID 22307690.
  10. ^ "What effect do variants in coding regions have?". EMBL-EBI Train online. 2019-05-02. Retrieved 2019-11-14.
  11. ^ Acuna-Hidalgo, Rocio; Veltman, Joris A.; Hoischen, Alexander (2016-11-28). "New insights into the generation and role of de novo mutations in health and disease". Genome Biology. 17 (1): 241. doi:10.1186/s13059-016-1110-1. ISSN 1474-760X. PMC 5125044. PMID 27894357.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  12. ^ Reference, Genetics Home. "Are chromosomal disorders inherited?". Genetics Home Reference. Retrieved 2020-01-15.
  13. ^ Kim, Young Joo; Lee, Jee Eun; Kim, Soo Hyun; Shim, Sung Shin; Cha, Dong Hyun (May 2013). "Maternal age-specific rates of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age". Obstetrics & Gynecology Science. 56 (3): 160–166. doi:10.5468/ogs.2013.56.3.160. ISSN 2287-8572. PMC 3784117. PMID 24327996.
  14. ^ Bewley, Susan; Ledger, William; Nikolaou, Dimitrios (June 2009). Reproductive Ageing. Cambridge University Press. p. 102. ISBN 978-1-906985-13-4.
  15. ^ Antonarakis, Stylianos E.; Cooper, David N. (2013-01-01), Rimoin, David; Pyeritz, Reed; Korf, Bruce (eds.), "Chapter 7 - Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences", Emery and Rimoin's Principles and Practice of Medical Genetics, Academic Press, pp. 1–48, ISBN 978-0-12-383834-6, retrieved 2020-01-15
  16. ^ Hamamy, Hanan (July 2012). "Consanguineous marriages". Journal of Community Genetics. 3 (3): 185–192. doi:10.1007/s12687-011-0072-y. ISSN 1868-310X. PMC 3419292. PMID 22109912.
  17. ^ Alastair John Ward Millar, John R. Gosche, Kokila Lakhoo (2011). "Chapter 63 - Intestinal Atresia and Stenosis" (PDF).{{cite web}}: CS1 maint: multiple names: authors list (link) CS1 maint: url-status (link)
  18. ^ Prasad, T. R. Sai; Bajpai, M. (2000-09-01). "Intestinal atresia". The Indian Journal of Pediatrics. 67 (9): 671–678. doi:10.1007/BF02762182. ISSN 0973-7693.
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